ClinVar Miner

List of variants in gene CLCN1, LOC123956257 studied for Thomsen and Becker disease

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.1990C>T (p.His664Tyr) rs201218706 0.00097
NM_000083.3(CLCN1):c.2028G>A (p.Glu676=) rs543195467 0.00019
NM_000083.3(CLCN1):c.2062_2063insTTC (p.Gly688delinsValArg) rs770836890 0.00009
NM_000083.3(CLCN1):c.2024A>C (p.Gln675Pro) rs768582911 0.00005
NM_000083.3(CLCN1):c.2012T>G (p.Leu671Arg) rs772516304 0.00003
NM_000083.3(CLCN1):c.2047G>C (p.Glu683Gln) rs760351874 0.00003
NM_000083.3(CLCN1):c.2097C>T (p.Gly699=) rs778181599 0.00003
NM_000083.3(CLCN1):c.1955T>C (p.Val652Ala) rs1803209631 0.00002
NM_000083.3(CLCN1):c.2022C>G (p.Ala674=) rs762947178 0.00002
NM_000083.3(CLCN1):c.2026G>C (p.Glu676Gln) rs750187204 0.00002
NM_000083.3(CLCN1):c.2087G>A (p.Gly696Glu) rs1243583996 0.00002
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala) rs1428234081 0.00002
NM_000083.3(CLCN1):c.1931-5C>T rs1192488651 0.00001
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro) rs754350357 0.00001
NM_000083.3(CLCN1):c.1953G>T (p.Ser651=) rs1375543643 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.1977C>A (p.Ala659=) rs904572417 0.00001
NM_000083.3(CLCN1):c.1988G>A (p.Arg663His) rs1212604561 0.00001
NM_000083.3(CLCN1):c.2000C>T (p.Pro667Leu) rs1424224517 0.00001
NM_000083.3(CLCN1):c.2015G>C (p.Arg672Pro) rs777888721 0.00001
NM_000083.3(CLCN1):c.2056T>G (p.Tyr686Asp) rs1359747708 0.00001
NM_000083.3(CLCN1):c.2058C>G (p.Tyr686Ter) rs1417174086 0.00001
NC_000007.14:g.(?_143345501)_(143350674_?)del
NM_000083.3(CLCN1):c.1931-16C>T
NM_000083.3(CLCN1):c.1931-1G>C rs2116383424
NM_000083.3(CLCN1):c.1931-20A>C
NM_000083.3(CLCN1):c.1931A>G (p.Asp644Gly)
NM_000083.3(CLCN1):c.1936A>T (p.Met646Leu) rs1156766492
NM_000083.3(CLCN1):c.1942C>T (p.Leu648=)
NM_000083.3(CLCN1):c.1943T>C (p.Leu648Pro)
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser) rs1181586555
NM_000083.3(CLCN1):c.1948G>T (p.Gly650Cys)
NM_000083.3(CLCN1):c.1949G>A (p.Gly650Asp)
NM_000083.3(CLCN1):c.1955_1966del (p.Val652_Ser655del) rs1803209334
NM_000083.3(CLCN1):c.1960C>A (p.Arg654=)
NM_000083.3(CLCN1):c.1961G>T (p.Arg654Leu) rs1322769496
NM_000083.3(CLCN1):c.1962G>A (p.Arg654=)
NM_000083.3(CLCN1):c.1965G>A (p.Ser655=) rs1445646671
NM_000083.3(CLCN1):c.1966G>A (p.Glu656Lys) rs1224200077
NM_000083.3(CLCN1):c.1966del (p.Glu656fs) rs1586514992
NM_000083.3(CLCN1):c.1978C>A (p.Leu660Ile) rs1803210699
NM_000083.3(CLCN1):c.1978del (p.Leu660fs)
NM_000083.3(CLCN1):c.1980C>T (p.Leu660=)
NM_000083.3(CLCN1):c.1981C>T (p.Leu661=)
NM_000083.3(CLCN1):c.1983G>T (p.Leu661=)
NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)
NM_000083.3(CLCN1):c.1985del (p.Gln662fs)
NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)
NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)
NM_000083.3(CLCN1):c.2005C>A (p.Arg669Ser) rs748537564
NM_000083.3(CLCN1):c.2005C>T (p.Arg669Cys)
NM_000083.3(CLCN1):c.2007C>G (p.Arg669=) rs2116383865
NM_000083.3(CLCN1):c.2007C>T (p.Arg669=)
NM_000083.3(CLCN1):c.2013G>A (p.Leu671=)
NM_000083.3(CLCN1):c.2017G>C (p.Ala673Pro) rs200385034
NM_000083.3(CLCN1):c.2017_2018del (p.Ala673fs) rs1586515112
NM_000083.3(CLCN1):c.2023del (p.Gln675fs) rs886042007
NM_000083.3(CLCN1):c.2029A>G (p.Met677Val)
NM_000083.3(CLCN1):c.2038A>T (p.Lys680Ter)
NM_000083.3(CLCN1):c.2045del (p.Ser682fs) rs2116384132
NM_000083.3(CLCN1):c.2046G>C (p.Ser682=) rs1803216040
NM_000083.3(CLCN1):c.2048A>C (p.Glu683Ala)
NM_000083.3(CLCN1):c.2050_2051delinsGG (p.Leu684Gly) rs1803216360
NM_000083.3(CLCN1):c.2052G>A (p.Leu684=)
NM_000083.3(CLCN1):c.2058C>A (p.Tyr686Ter) rs1417174086
NM_000083.3(CLCN1):c.2058C>T (p.Tyr686=)
NM_000083.3(CLCN1):c.2061C>T (p.Asp687=)
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp) rs1563087092
NM_000083.3(CLCN1):c.2082G>A (p.Gly694=)
NM_000083.3(CLCN1):c.2082G>T (p.Gly694=)
NM_000083.3(CLCN1):c.2083G>C (p.Glu695Gln)
NM_000083.3(CLCN1):c.2089C>A (p.Leu697Ile) rs2116384407
NM_000083.3(CLCN1):c.2091C>T (p.Leu697=)
NM_000083.3(CLCN1):c.2093_2105del (p.Pro698fs)
NM_000083.3(CLCN1):c.2094C>T (p.Pro698=) rs758874120
NM_000083.3(CLCN1):c.2097C>A (p.Gly699=)
NM_000083.3(CLCN1):c.2097C>G (p.Gly699=) rs778181599
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
NM_000083.3(CLCN1):c.2100G>T (p.Ala700=)
NM_000083.3(CLCN1):c.2106A>G (p.Pro702=)
NM_000083.3(CLCN1):c.2111G>A (p.Arg704Gln) rs984151770
NM_000083.3(CLCN1):c.2114C>T (p.Pro705Leu)
NM_000083.3(CLCN1):c.2115C>G (p.Pro705=)

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